Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson, +30

Nature

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological DisorderGeneticsMolecular Biology +5

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

Mark E. Gurney, Haifeng Pu, Arlene Y. Chiu, +11

Science

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng, +14

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisGeneticsProtein MisfoldingNeuroscience +3

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Maria K. Tsaousidou, Karim Ouahchi, Thomas T. Warner, +12

The American Journal of Human Genetics

Neurodegenerative DiseasesMolecular NeuroscienceOxysterolMotor-neuron DegenerationDegenerative Disease +8

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

Afif Hentati, Karim Ouahchi, Margaret A. Pericak‐Vance, +9

Neurogenetics

Amyotrophic Lateral SclerosisMendelian DisorderGenetic DisorderCommoner FormGenetics +4

Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

Afif Hentati, M.A. Perlcak-Vance, Wu-Yen Hung, +6

Human Molecular Genetics

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Afif Hentati, Margaret A. Pericak‐Vance, Felicia Lennon, +11

Human Molecular Genetics

Down SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Spg +10

Human α‐tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency

Afif Hentati, Han‐Xiang Deng, W.‐Y. Hung, +6

Annals of Neurology

Characterizing absolute lymphocyte count profiles in dimethyl fumarate–treated patients with MS

Robert J. Fox, Andrew Chan, Ralf Gold, +589

Neurology Clinical Practice

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

Afif Hentati, Han‐Xiang Deng, Hong Zhai, +15

Neurology